Box 2 Technology Development

The Human Genome Project was aided by several 'breakthrough' technological developments, including Sanger DNA sequencing and its automation, DNA-based genetic markers, large-insert cloning systems and the polymerase chain reaction. During the project, these methods were scaled up and made more efficient by 'evolutionary' advances, such as automation and miniaturization. New technologies, including capillary-based sequencing and methods for genotyping single-nucleotide polymorphisms, have recently been introduced, leading to further improvements in capacity for genomic analyses. Even newer approaches, such as nanotechnology and microfluidics, are being developed, and hold great promise, but further advances are still needed. Some examples are:

Sequencing and genotyping technologies to reduce costs further and increase access to a wider range of investigators

Identification and validation of functional elements that do not encode protein

In vivo, real-time monitoring of gene expression and the localization, specificity, modification and activity/kinetics of gene products in all relevant cell types